Variant report

Variant	rs3812114
Chromosome Location	chr6:81045357-81045358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1341279	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3812118	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6921689	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7766674	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7771593	0.82[AFR][1000 genomes]
rs947223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1796319	chr6:81034505-81058025	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv16646	chr6:81040322-81055387	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81005200-81056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81029400-81079600	Weak transcription	HSMM	muscle
3	chr6:81033800-81070200	Weak transcription	Left Ventricle	heart
4	chr6:81041600-81045600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:81042200-81056400	Weak transcription	Fetal Heart	heart
6	chr6:81043600-81045400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:81044200-81045400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:81044400-81046200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:81044400-81048000	Weak transcription	Fetal Brain Female	brain
10	chr6:81044400-81050200	Weak transcription	Fetal Kidney	kidney
11	chr6:81044600-81045400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:81044600-81045400	Active TSS	NHDF-Ad	bronchial
13	chr6:81044600-81045400	Active TSS	NHLF	lung
14	chr6:81044600-81045400	Active TSS	Osteobl	bone
15	chr6:81044600-81045600	Active TSS	Right Atrium	heart
16	chr6:81044600-81046000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:81044800-81045400	Active TSS	Liver	Liver
18	chr6:81044800-81045600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:81045000-81045400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr6:81045000-81045400	Flanking Active TSS	HUVEC	blood vessel
21	chr6:81045000-81045600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:81045000-81045600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:81045200-81045400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:81045200-81045400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:81045200-81045400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:81045200-81045400	Enhancers	Brain Germinal Matrix	brain
27	chr6:81045200-81045400	Enhancers	Brain Hippocampus Middle	brain
28	chr6:81045200-81045600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:81045200-81046600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:81045200-81046800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:81045200-81047200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:81045200-81047800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:81045200-81047800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:81045200-81047800	Weak transcription	Aorta	Aorta
35	chr6:81045200-81048000	Weak transcription	Fetal Stomach	stomach
36	chr6:81045200-81051000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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